Incidental Mutation 'R5867:Alad'
ID 490490
Institutional Source Beutler Lab
Gene Symbol Alad
Ensembl Gene ENSMUSG00000028393
Gene Name aminolevulinate, delta-, dehydratase
Synonyms Lv
MMRRC Submission 043233-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5867 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 62427406-62438155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62431203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 56 (Y56N)
Ref Sequence ENSEMBL: ENSMUSP00000103068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030090] [ENSMUST00000107444]
AlphaFold P10518
Predicted Effect probably damaging
Transcript: ENSMUST00000030090
AA Change: Y56N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393
AA Change: Y56N

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107444
AA Change: Y56N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103068
Gene: ENSMUSG00000028393
AA Change: Y56N

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137448
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,987,416 (GRCm39) V2900A probably damaging Het
Akip1 A G 7: 109,306,684 (GRCm39) H127R probably benign Het
Aldoart1 T A 4: 72,770,770 (GRCm39) M13L probably benign Het
Ap1g1 C T 8: 110,545,614 (GRCm39) A89V probably damaging Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Cd209b T C 8: 3,974,246 (GRCm39) I89V possibly damaging Het
Cd36 T C 5: 17,990,733 (GRCm39) K469R probably benign Het
Cdh20 T A 1: 109,976,581 (GRCm39) I82N probably damaging Het
Clmn G T 12: 104,748,014 (GRCm39) P511H probably damaging Het
Cyfip1 A C 7: 55,576,061 (GRCm39) D1077A probably damaging Het
Cyp2a5 T C 7: 26,542,383 (GRCm39) F462L probably benign Het
Dclk2 A G 3: 86,699,166 (GRCm39) *709Q probably null Het
Drd1 T C 13: 54,208,182 (GRCm39) T4A probably benign Het
Ephb2 C T 4: 136,402,733 (GRCm39) V513I possibly damaging Het
Fam43a T A 16: 30,420,277 (GRCm39) V287E probably benign Het
Gm5134 A G 10: 75,844,450 (GRCm39) E602G probably benign Het
Gtsf2 C T 15: 103,348,063 (GRCm39) G149E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klhl6 T C 16: 19,801,570 (GRCm39) T62A probably benign Het
Lamb1 T A 12: 31,348,954 (GRCm39) I662N possibly damaging Het
Lmod3 A G 6: 97,224,963 (GRCm39) V286A probably damaging Het
Mefv T C 16: 3,533,797 (GRCm39) D158G probably damaging Het
Mff T C 1: 82,728,327 (GRCm39) probably null Het
Mfsd6l G T 11: 68,448,036 (GRCm39) V296L possibly damaging Het
Neu2 G T 1: 87,524,478 (GRCm39) Q154H probably damaging Het
Or5m3b A G 2: 85,871,795 (GRCm39) I45M probably benign Het
Pdk4 T A 6: 5,487,452 (GRCm39) H266L probably benign Het
Pdrg1 T C 2: 152,855,975 (GRCm39) N40D probably damaging Het
Pi4k2a T C 19: 42,093,924 (GRCm39) probably null Het
Pkd1l2 T A 8: 117,781,750 (GRCm39) D765V probably damaging Het
Pspc1 A T 14: 56,999,498 (GRCm39) probably null Het
Ptprm T C 17: 67,352,976 (GRCm39) probably null Het
Spata31d1d T C 13: 59,875,054 (GRCm39) K827R possibly damaging Het
Srebf2 T A 15: 82,053,987 (GRCm39) F46Y probably damaging Het
Tfrc T A 16: 32,439,230 (GRCm39) C365S possibly damaging Het
Ttc7 A G 17: 87,629,900 (GRCm39) H294R possibly damaging Het
Ubr7 T A 12: 102,727,753 (GRCm39) Y92N probably damaging Het
Vmn1r42 A C 6: 89,821,761 (GRCm39) Y269* probably null Het
Vmn2r1 A G 3: 64,011,990 (GRCm39) E617G probably benign Het
Vps13c A G 9: 67,889,904 (GRCm39) probably null Het
Vps50 T C 6: 3,536,965 (GRCm39) L312P probably damaging Het
Wdr82 A G 9: 106,062,503 (GRCm39) Q252R probably benign Het
Zcchc3 A G 2: 152,256,444 (GRCm39) F85S probably damaging Het
Zfhx3 T C 8: 109,520,078 (GRCm39) L400P probably damaging Het
Other mutations in Alad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Alad APN 4 62,432,330 (GRCm39) missense probably benign 0.00
IGL03358:Alad APN 4 62,428,844 (GRCm39) splice site probably benign
R5905:Alad UTSW 4 62,428,359 (GRCm39) missense probably benign 0.06
R6028:Alad UTSW 4 62,428,359 (GRCm39) missense probably benign 0.06
R7554:Alad UTSW 4 62,430,023 (GRCm39) critical splice acceptor site probably null
R8015:Alad UTSW 4 62,430,159 (GRCm39) missense probably damaging 1.00
R9144:Alad UTSW 4 62,430,257 (GRCm39) missense probably damaging 0.99
R9299:Alad UTSW 4 62,429,760 (GRCm39) critical splice donor site probably null
R9535:Alad UTSW 4 62,428,777 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGTGAGAGCGTGCACTG -3'
(R):5'- CGTTTTGCTGAGGAGCTCTC -3'

Sequencing Primer
(F):5'- AGACCATGCTGGCTTTGAAC -3'
(R):5'- TGAGGAGCTCTCACATGCTAG -3'
Posted On 2017-10-20